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2. Leber's hereditary optic neuropathy (LHON/11778) with myoclonus: report of two cases

Author

A. Baruzzi, G. L. Mancardi, Maria Lucia Valentino, Fabio Bandini, Stefano Meletti, Federica Provini, Pasquale Montagna, Valerio Carelli, Roberto Vetrugno, and Rocco Liguori

Subjects
Male, Myoclonus, Visual acuity, Ubiquinone, Biopsy, Anti-Inflammatory Agents, Visual Acuity, Neurological disorder, Electroencephalography, Antioxidants, Benzoquinones, genetics, Evoked Potentials, Leber, medicine.diagnostic_test, Pathogenic mutation, Cranial nerves, Leber's hereditary optic neuropathy, Middle Aged, Magnetic Resonance Imaging, myoclonus, mitochondria, Psychiatry and Mental health, Hereditary, Treatment Outcome, Disease Progression, Steroids, medicine.symptom, Visual, Adult, Anti-Inflammatory Agents, therapeutic use, Antioxidants, therapeutic use, Benzoquinones, therapeutic use, Biopsy, Disease Progression, Electroencephalography, Electromyography, Evoked Potentials, Visual, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, genetics, Myoclonus, complications/diagnosis/drug therapy/genetics, Optic Atrophy, complications/diagnosis/drug therapy/genetics, Steroids, Treatment Outcome, Ubiquinone, analogs /&/ derivatives, Visual Acuity, Adult, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, complications/diagnosis/drug therapy/genetics, Short Report, Optic Atrophy, Hereditary, Leber, analogs /&/ derivatives, Back averaging, LHON, mental disorders, medicine, Humans, Electromyography, business.industry, nutritional and metabolic diseases, medicine.disease, Dermatology, eye diseases, nervous system diseases, Surgery, Optic Atrophy, therapeutic use, Mutation, Evoked Potentials, Visual, Neurology (clinical), business
Abstract

The previously unrecognised association of myoclonus in two patients with LHON with the 11778/ND4 pathogenic mutation is described. EEG failed to disclose epileptic figures, and a back averaging study suggested that myoclonus was cortical in origin in both patients.

Published
2001

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